Results 91 to 100 of about 113,935,104 (175)

Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.

, 2008
Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative lysosomal disease characterized by accumulation of sulfatides, extensive white matter damage and loss of both cognitive and motor functions.
Dan, Bernard, Kadhim, Hazim, Deconinck, Nicolas, Ziereisen, France, Nassogne, Marie-Cécile, Pelc, Karine, Messaaoui, Anissa, Kadhim, H, Vanier, Marie T., Vanier, Marie T, Danloy, Bernard, Sznajer, Yves   +11 more
core   +1 more source

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with CDPX

, 1998
X-linked chondrodysplasia punctata (CDPX) is a congenital disorder characterized by abnormalities in cartilage and bone development. Mutations leading to amino acid substitutions were identified recently in CDPX patients, in the coding region of the ...
BALLABIO, ANDREA, DANIELE A, MERONI G., D'ADDIO M, ANDRIA G, PARENTI, GIANCARLO   +5 more
core   +1 more source

Campylobacter-Wolinella group organisms are the only oral bacteria that form arylsulfatase-active colonies on a synthetic indicator medium.

, 1989
Most oral bacteria tested formed colonies on a chemically defined medium with a chromogenic arylsulfatase substrate. Arylsulfatase activity was, however, restricted to Campylobacter-Wolinella group organisms, including Wolinella recta, a possible ...
Wyss C
core   +1 more source

Biochemical characterization' of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

, 1998
X-linked chondrodysplasia punctata (CDPX) is a congenital disorder characterized by abnormalities in cartilage and bone development. Mutations leading to amino acid substitutions were identified recently in CDPX patients, in the coding region of the ...
M. DADDIO, G. ANDRIA, DANIELE, Aurora, A. BALLABIO AND G. MERONI, G. PARENTI   +4 more
core   +1 more source

A monoclonal antibody to rat liver arylsulfatase C and its application in immunohistochemistry.

, 1989
We purified arylsulfatase C from rat liver microsomes and prepared a monoclonal antibody (P42C2) to the purified enzyme. By SDS-PAGE and immunoblotting analysis using P42C2, the molecular weight of the purified enzyme and of the enzyme in liver and ...
T Oinuma, S Ohtaki, K Umeki, E Aikawa, J Kawano, T Kotani   +5 more
core   +1 more source

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

International Journal of Neonatal Screening
Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function.
Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini, Giancarlo la Marca   +21 more
doaj   +1 more source

Biochar-Based Granular Fertilizers with Agro-Industrial Binders Enhance Enzymatic Activity and Nutrient Cycling in Tropical Oxisols

Agronomy
The low fertility of tropical Oxisols challenges sustainable agriculture. While biochar-based granular fertilizers (BBGFs) offer a solution, the influence of different organic binders is unclear. This study investigated how BBGFs formulated with bio-oil (
José Mendes dos Santos Júnior, Luiz Arnaldo Fernandes, Fernando Colen, Leidivan Almeida Frazão, Rodinei Facco Pegoraro   +4 more
doaj   +1 more source

Mucopoly saccharidosis type maroteaux-lamy, a case report [PDF]

Journal of Mazandaran University of Medical Sciences, 2007
Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine--4-sulfate sulfatase (arylsulfatase B).
A.R. Alaee, F. Rashidi ghader, F. Mojtahedzadeh, A. Tale   +3 more
doaj  

Ultrastructural localization of arylsulfatase C activity in rat kidney.

, 1987
Metal precipitation techniques for ultrastructural demonstration of arylsulfatase C activity were studied in rat kidney. Possible substrates for the techniques were biochemically tested with regard to their velocity of enzymatic hydrolysis and their ...
E Aikawa, J Kawano
core   +1 more source

Specific Fertilization Practices Reveal Important Insights into the Complex Interaction Between Microbes and Enzymes in Soils of Different Farming Systems

Life
The interaction of microorganisms and their enzyme activity is one of the key indicators for a comprehensive measurement of soil health. The aim of this study was to determine significant correlations between different soil microorganisms and enzyme ...
Maša Pintarič, Ana Štuhec, Eva Tratnik, Tomaž Langerholc   +3 more
doaj   +1 more source